258 related articles for article (PubMed ID: 12370472)
1. A novel murine myotonia congenita without molecular defects in the ClC-1 and the SCN4A.
Shirakawa T; Sakai K; Kitagawa Y; Hori A; Hirose G
Neurology; 2002 Oct; 59(7):1091-4. PubMed ID: 12370472
[TBL] [Abstract][Full Text] [Related]
2. Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M).
Wakeman B; MacDonald IM; Ginjaar I; Tarleton J; Babu D
J AAPOS; 2009 Oct; 13(5):526-7. PubMed ID: 19840739
[No Abstract] [Full Text] [Related]
3. Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita.
Zhang J; Bendahhou S; Sanguinetti MC; Ptácek LJ
Neurology; 2000 Feb; 54(4):937-42. PubMed ID: 10690989
[TBL] [Abstract][Full Text] [Related]
4. Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia.
Sasaki R; Ichiyasu H; Ito N; Ikeda T; Takano H; Ikeuchi T; Kuzuhara S; Uchino M; Tsuji S; Uyama E
Neuromuscul Disord; 1999 Dec; 9(8):587-92. PubMed ID: 10619717
[TBL] [Abstract][Full Text] [Related]
5. A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.
Sasaki R; Takano H; Kamakura K; Kaida K; Hirata A; Saito M; Tanaka H; Kuzuhara S; Tsuji S
Arch Neurol; 1999 Jun; 56(6):692-6. PubMed ID: 10369308
[TBL] [Abstract][Full Text] [Related]
6. Double trouble in a patient with myotonia.
Hehir MK; Logigian E; Raja Rayan DL; Ciafaloni E
BMJ Case Rep; 2013 Feb; 2013():. PubMed ID: 23417379
[TBL] [Abstract][Full Text] [Related]
7. A missense mutation in canine C1C-1 causes recessive myotonia congenita in the dog.
Rhodes TH; Vite CH; Giger U; Patterson DF; Fahlke C; George AL
FEBS Lett; 1999 Jul; 456(1):54-8. PubMed ID: 10452529
[TBL] [Abstract][Full Text] [Related]
8. A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization.
Tsujino A; Kaibara M; Hayashi H; Eguchi H; Nakayama S; Sato K; Fukuda T; Tateishi Y; Shirabe S; Taniyama K; Kawakami A
Neurosci Lett; 2011 Apr; 494(2):155-60. PubMed ID: 21385601
[TBL] [Abstract][Full Text] [Related]
9. Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita.
Modoni A; D'Amico A; Dallapiccola B; Mereu ML; Merlini L; Pagliarani S; Pisaneschi E; Silvestri G; Torrente I; Valente EM; Lo Monaco M
J Clin Neurophysiol; 2011 Feb; 28(1):39-44. PubMed ID: 21221019
[TBL] [Abstract][Full Text] [Related]
10. Myotonia congenita.
Lossin C; George AL
Adv Genet; 2008; 63():25-55. PubMed ID: 19185184
[TBL] [Abstract][Full Text] [Related]
11. New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene.
Fusco C; Frattini D; Salerno GG; Canali E; Bernasconi P; Maggi L
Brain Dev; 2015 Oct; 37(9):891-3. PubMed ID: 25735906
[TBL] [Abstract][Full Text] [Related]
12. Electrical myotonia in heterozygous carriers of recessive myotonia congenita.
Deymeer F; Lehmann-Horn F; Serdaroğlu P; Cakirkaya S; Benz S; Rüdel R; Ozdemir C
Muscle Nerve; 1999 Jan; 22(1):123-5. PubMed ID: 9883868
[TBL] [Abstract][Full Text] [Related]
13. Functional and Structural Characterization of ClC-1 and Na
Brenes O; Barbieri R; Vásquez M; Vindas-Smith R; Roig J; Romero A; Valle GD; Bermúdez-Guzmán L; Bertelli S; Pusch M; Morales F
Cells; 2021 Feb; 10(2):. PubMed ID: 33670307
[TBL] [Abstract][Full Text] [Related]
14. Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype.
Gurgel-Giannetti J; Senkevics AS; Zilbersztajn-Gotlieb D; Yamamoto LU; Muniz VP; Pavanello RC; Oliveira AB; Zatz M; Vainzof M
Muscle Nerve; 2012 Feb; 45(2):279-83. PubMed ID: 22246887
[TBL] [Abstract][Full Text] [Related]
15. Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene.
Du H; Grob SR; Zhao L; Lee J; El-Sahn M; Hughes G; Luo J; Schaf K; Duan Y; Quach J; Wei X; Shaw P; Granet D; Zhang K
Eye (Lond); 2012 Aug; 26(8):1039-43. PubMed ID: 22653516
[TBL] [Abstract][Full Text] [Related]
16. ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.
Imbrici P; Maggi L; Mangiatordi GF; Dinardo MM; Altamura C; Brugnoni R; Alberga D; Pinter GL; Ricci G; Siciliano G; Micheli R; Annicchiarico G; Lattanzi G; Nicolotti O; Morandi L; Bernasconi P; Desaphy JF; Mantegazza R; Camerino DC
J Physiol; 2015 Sep; 593(18):4181-99. PubMed ID: 26096614
[TBL] [Abstract][Full Text] [Related]
17. Changes of Resurgent Na
Huang CW; Lai HJ; Lin PC; Lee MJ
Int J Mol Sci; 2020 Apr; 21(7):. PubMed ID: 32276507
[TBL] [Abstract][Full Text] [Related]
18. Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.
Zhao C; Tang D; Huang H; Tang H; Yang Y; Yang M; Luo Y; Tao H; Tang J; Zhou X; Shi X
PLoS One; 2020; 15(5):e0233017. PubMed ID: 32407401
[TBL] [Abstract][Full Text] [Related]
19. A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony.
Wijnberg ID; Owczarek-Lipska M; Sacchetto R; Mascarello F; Pascoli F; Grünberg W; van der Kolk JH; Drögemüller C
Neuromuscul Disord; 2012 Apr; 22(4):361-7. PubMed ID: 22197188
[TBL] [Abstract][Full Text] [Related]
20. A zebrafish model of nondystrophic myotonia with sodium channelopathy.
Nam TS; Zhang J; Chandrasekaran G; Jeong IY; Li W; Lee SH; Kang KW; Maeng JS; Kang H; Shin HY; Park HC; Kim S; Choi SY; Kim MK
Neurosci Lett; 2020 Jan; 714():134579. PubMed ID: 31669315
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
